UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
625254
ClinVar RCV Id:
RCV000767280
dbSNP Id:
rs397516445
COSMIC:
COSM17913
CIViC:
CA351756176
PCER:
P-CER:CA351756176/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149820T>A , CM000665.2:g.10149820T>A | GRCh38 |
| NC_000003.11:g.10191504T>A , CM000665.1:g.10191504T>A | GRCh37 |
| NC_000003.10:g.10166504T>A | NCBI36 |
| NG_008212.3:g.13186T>A , LRG_322:g.13186T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*174T>A | ENSP00000512434.1:n.*174T>A | |
| ENST00000696143.1:c.633T>A | ENSP00000512435.1:n.633T>A | |
| ENST00000696153.1:c.608T>A | ENSP00000512444.1:p.Val203Asp | |
| ENST00000256474.3:c.497T>A MANE Select | ENSP00000256474.3:p.Val166Asp | |
| ENST00000256474.2:c.497T>A | ENSP00000256474.2:p.Val166Asp | |
| ENST00000345392.2:c.374T>A | ENSP00000344757.2:p.Val125Asp | |
| ENST00000477538.1:n.633T>A | ||
| NM_000551.3:c.497T>A , LRG_322t1:c.497T>A | NP_000542.1:p.Val166Asp | |
| NM_198156.2:c.374T>A | NP_937799.1:p.Val125Asp | |
| NM_001354723.1:c.*51T>A | NP_001341652.1:n.*51T>A | |
| NM_000551.4:c.497T>A MANE Select | NP_000542.1:p.Val166Asp | |
| NM_001354723.2:c.*51T>A | NP_001341652.1:n.*51T>A | |
| NM_198156.3:c.374T>A | NP_937799.1:p.Val125Asp |